METHODS: Systemic examination of bulbar signs was carried out according to a predetermined protocol on a cohort of young and elderly healthy subjects.
RESULTS: A total of 206 subjects were recruited in the study, 104 young adults with mean age of 20 years, and 102 elderly with mean age of 73 years. Uvula deviation was seen in 28 (26.9%) young subjects and 22 (21.6%) elderly. Irregular tongue border was seen in 17 subjects, unilateral in 4 subjects. Fourteen (6.8%) subjects had deviation on tongue protrusion. Occasional tremor of tongue on protrusion is common in both young and old. Persistent (severe) tongue tremor on protrusion was seen in 18.6% of the elderly, and 4.8% of the young. None of the subjects had tremor of tongue at rest. In gag reflex, absence of gagging response was common in elderly, seen in two thirds of the subjects on stimulation of the posterior pharyngeal wall. However, all the subjects had uvular movement. Habituation or suppression of gagging response was seen in close to 90% of young males.
CONCLUSION: There is wide range of normality in bulbar signs in normal population, particularly among the elderly.
OBJECTIVE: To describe a novel dinucleotide deletion in the FRDA gene in two Malaysian siblings with FRDA1.
SETTING: Tertiary referral university hospital setting.
PATIENTS AND METHODS: A previously healthy 10-year-old Malaysian boy, presented with fever, lethargy, headaches, dysarthria, dysphagia, vertigo and ataxia which developed over a one week period. His neurological exam revealed evidence of dysarthria and ataxia, mild generalized weakness and choreoform movements of the tongue and hands. His reflexes were absent and Babinski sign was present bilaterally. A nine-year-old sister was found to have mild ataxia but was otherwise neurologically intact.
RESULTS: Molecular genetic studies demonstrated that both siblings were compound heterozygotes with a GAA expansion on one allele and a novel dinucleotide deletion on the other allele.
CONCLUSIONS: We describe a novel dinucleotide deletion in the first exon of the FRDA gene in two siblings with FRDA1. Additionally this is the first report of FRDA1 occurring in a family of southeast Asian descent, it demonstrates intrafamilial phenotypic variability, and confirms that atypical phenotypes are associated with compound heterozygosity.
METHODS: Clinical case records and laboratory investigations were reviewed. The case definition was: patients from the outbreak area, direct contact or in close proximity with pigs, clinical or CSF features of encephalitis.
RESULTS: The mean age was 38 years, 89% were male, 58% were ethnic Chinese, 78% were pig farm owners or hired workers. The mean incubation period was 10 days. The patients typically presented with nonspecific systemic symptoms of fever, headache, myalgia and sore throat. Seizures and focal neurological signs were seen in 16% and 5% respectively. In the more severe cases, this was followed by drowsiness and deteriorating consciousness requiring ventilation in 61%. Autonomic disturbances and myoclonic jerks were common features. The mortality was high at 41%. Systolic hypertension, tachycardia and high fever were associated with poor outcome. On the other hand, 40% recovered fully. As for the other 19%, the residual neurological signs were mostly mild.
CONCLUSION: Nipah virus caused an encephalitis illness with short incubation period and high mortality. The prognosis for the survivors was good.